ReviewMovement disorders clinical practice2019
ADCY5-Related Dyskinesia: Improving Clinical Detection of an Evolving Disorder.
Review in Movement disorders clinical practice, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 47 citations in OpenAlex.
- Genomic consequences of domestication and the diversification of body coloration and morphology in ornamental medaka strains.Molecular biology and evolution · 2026Article
- Mixed Movement Disorder Caused byCase reports in neurological medicine · 2026Article
- Treatment Efficacy of Theophylline in ADCY5-Related Dyskinesia: A Retrospective Case Series Study.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Monogenic disorders associated with motor speech phenotypes in children and adolescents undergoing clinical exome sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Microdeletion 3q13.33-3q21.2: A Rare Cause of Neurodevelopmental Disorder.Journal of pediatric genetics · 2024Article
- Integrated bioinformatics investigation of adenylyl cyclase family co-expression network in bladder cancer followed by preliminary validation of member 2 (Translational cancer research · 2024Article
- Scoping Review on ADCY5-Related Movement Disorders.Movement disorders clinical practice · 2023Article
- Improvement ofMovement disorders clinical practice · 2023Article
- Elective and Emergency Deep Brain Stimulation in Refractory Pediatric Monogenetic Movement Disorders Presenting with Dystonia: Current Practice Illustrated by Two Cases.Neuropediatrics · 2023Review
- The enduring enigma of sporadic chorea: A single center case series.Tremor and other hyperkinetic movements (New York, N.Y.) · 2023Article
- Case report: Diagnosis of ADCY5-related dyskinesia explaining the entire phenotype in a patient with atypical citrullinemia type I.Frontiers in neurology · 2023Article
- ADCY5-related dyskinesia: a case report.Neurological research and practice · 2022Article
- A Novel HomozygousMovement disorders clinical practice · 2021Article
- Identification of hub genes and functional modules in colon adenocarcinoma based on public databases by bioinformatics analysis.Journal of gastrointestinal oncology · 2021Article
- Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs.Frontiers in genetics · 2021Article
- Paroxysmal Movement Disorders.Frontiers in neurology · 2021Review
- Article
- Deep brain stimulation reduces (nocturnal) dyskinetic exacerbations in patients with ADCY5 mutation: a case series.Journal of neurology · 2020Article
- Long-Term Follow-Up and Evolution ofMovement disorders clinical practice · 2020Article
Corrections and comments
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Authors and funding
5 authors at 5 institutions in 4 countries.
Funding
Abstract
backgroundThe phenotypic spectrum of adenylyl cyclase 5 (ADCY5)-related disease has expanded considerably since the first description of the disorder in 1978 as familial essential chorea in a multiplex family.
objectiveTo examine recent advances in the understanding of ADCY5-related dyskinesia and outline a diagnostic approach to enhance clinical detection.
methodsA pragmatic review of the ADCY5 literature was undertaken to examine unique genetic and pathophysiological features as well as distinguishing clinical features.
resultsWith over 70 cases reported to date, the phenotype is recognized to be broad, although distinctive features include prominent facial dyskinesia, motor exacerbations during drowsiness or sleep arousal, episodic painful dystonic posturing increased with stress or illness, and axial hypotonia with delayed developmental milestones. Uncommon phenotypes include childhood-onset chorea, myoclonus-dystonia, isolated nongeneralized dystonia, and alternating hemiplegia.
conclusionThe ongoing expansion in clinical features suggests that ADCY5 remains underdiagnosed and may account for a proportion of "idiopathic" hyperkinetic movement disorders. Enhanced understanding of its clinical features may help clinicians improve the detection of complex or uncommon cases.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.